Trichothiodystrophy 1, photosensitive: genes and variants
Trichothiodystrophy 1, photosensitive is linked to 1 analyzed protein (ERCC2). 9 DNA variants are known to cause it; 28 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Trichothiodystrophy 1, photosensitive
ERCC2: General transcription and DNA repair factor IIH helicase subunit XPD
Its XPD helicase activity unwinds damaged DNA during nucleotide-excision repair and also supports transcription initiation within TFIIH. Biallelic pathogenic variants cause xeroderma pigmentosum, trichothiodystrophy, or combined DNA-repair syndromes depending on the functional defect.
9 disease-causing and 28 uncertain variants in ERCC2 are linked to Trichothiodystrophy 1, photosensitive.
Known disease-causing variants in Trichothiodystrophy 1, photosensitive
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERCC2 R658C | 658 | Disease-causing (★★) | |
| ERCC2 S541R | 541 | Mediates interaction with MMS19 | Disease-causing (★★) |
| ERCC2 C259Y | 259 | Helicase ATP-binding | Disease-causing (★★) |
| ERCC2 R616W | 616 | Mediates interaction with MMS19 | Disease-causing (★★) |
| ERCC2 R666W | 666 | Disease-causing (★★) | |
| ERCC2 T709P | 709 | Disease-causing (★★) | |
| ERCC2 A725P | 725 | Disease-causing (★★) | |
| ERCC2 R658G | 658 | Disease-causing (★) | |
| ERCC2 C663R | 663 | Disease-causing (★) |
Which prediction tools work for Trichothiodystrophy 1, photosensitive
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 94 out of 100
- CADD: 91 out of 100
- phyloP: 75 out of 100
Same protein, different disease
- Cerebrooculofacioskeletal syndrome 2 is also caused by ERCC2 variants; they fall mostly in different places as the Trichothiodystrophy 1, photosensitive variants (15 disease-causing).
- Xeroderma pigmentosum, group D is also caused by ERCC2 variants; they fall mostly in different places as the Trichothiodystrophy 1, photosensitive variants (11 disease-causing).
- Xeroderma pigmentosum is also caused by ERCC2 variants; they fall mostly in different places as the Trichothiodystrophy 1, photosensitive variants (5 disease-causing).
Diseases related to Trichothiodystrophy 1, photosensitive
- Ovarian cancer, also linked to ERCC2
- Xeroderma pigmentosum, also linked to ERCC2
- Cerebrooculofacioskeletal syndrome 2, also linked to ERCC2
- Xeroderma pigmentosum, group D, also linked to ERCC2
Frequently asked questions
Which genes are linked to Trichothiodystrophy 1, photosensitive?
In CATVariant, Trichothiodystrophy 1, photosensitive is linked to 1 analyzed protein: ERCC2 (General transcription and DNA repair factor IIH helicase subunit XPD).
How many genetic variants are linked to Trichothiodystrophy 1, photosensitive?
57 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 28 are of uncertain significance or have conflicting reports.
Which uncertain variants in Trichothiodystrophy 1, photosensitive look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Trichothiodystrophy 1, photosensitive?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 9 disease-causing and 9 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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